Potulska-Chromik, 2017: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
6
|
n.a.
|
n.a.
|
Dystonia, limb
Dystonia, focal Dystonia (any or unspecified) Lower limb dystonia Dystonia, foot Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Bradykinesia
Parkinsonism |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
10
|
n.a.
|
Dystonia, segmental/multifocal
Dystonia, task-specific Dystonia, hand Lower limb dystonia Dystonia, limb Dystonia, foot Upper limb dystonia Dystonia (any or unspecified) Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
n.a.
|
n.a.
|
Dystonia, generalized
Dystonia, axial Dystonia (any or unspecified) Dystonia, limb Dyskinesia Dystonia, segmental/multifocal Diurnal fluctuations Lower limb dystonia Dystonia, foot Show more (+6) |
n.a.
|